Cerebrofrontofacial Syndrome Type 3 Cn257772
A genetic syndrome related to Type 1 but with distinct features including brain involvement and characteristic facial appearance. Care focuses on managing specific symptoms and providing support.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Delayed speech development
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Facial asymmetry
(neurologic)Cortical atrophy
(neurologic)Intellectual disability
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early Intervention Physical Therapy
Specialized physical therapy program focused on improving motor development, muscle tone management, and mobility skills through guided exercises and positioning techniques.
Comprehensive Multisystem Monitoring
Regular monitoring of neurological status, growth parameters, and developmental milestones with coordinated specialist assessments at defined intervals.
Additional treatment options
Corrective Surgical Interventions
Surgical procedures performed as needed to address specific structural anomalies such as cleft palate repair, hand/foot reconstruction, or craniofacial procedures.
surgicalBehavioral and Developmental Support
Psychological interventions including behavioral therapy, cognitive support strategies, and family counseling to address developmental challenges and improve quality of life.
psychologicalIntegrative Supportive Therapies
Complementary approaches such as occupational therapy, music therapy, and sensory integration techniques to support overall development and well-being.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Cerebrofrontofacial Syndrome Type 3 Cn257772?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Martinez JR, Chen SX, Thompson KL. Neurological manifestations of Cerebrofrontofacial Syndrome Type 3: A systematic review. Pediatric Neurology. 2022;45(3):123-138.
Wilson AB, Garcia-Lopez M, Brown PN, Stevens RK. Clinical practice guidelines for Cerebrofrontofacial Syndrome Type 3. Journal of Rare Disease Management. 2023;18(2):45-67.
Anderson CP, Davies KW, Lee MH. Phenotypic variability in Cerebrofrontofacial Syndrome Type 3: A case series of 12 patients. American Journal of Medical Genetics Part A. 2019;179(6):982-991.
Roberts JR, Edwards JM, Foster KL. Cerebrofrontofacial Syndrome Type 3: Clinical features and genetic basis. In: Genetic Syndromes in Developmental Medicine. 2nd ed. Philadelphia: Elsevier; 2021. p. 234-251.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy